DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Variant: rs376526037 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs376526037

ERCC6

0.700

CausalMutation

CLINVAR

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

26749132

2016

dbSNP:

rs376526037

ERCC6

0.700

CausalMutation

CLINVAR

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

26204423

2016

dbSNP:

rs376526037

ERCC6

0.700

CausalMutation

CLINVAR

Cockayne syndrome: the expanding clinical and mutational spectrum.

23428416

2013

dbSNP:

rs376526037

ERCC6

0.700

CausalMutation

CLINVAR

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

19894250

2010

dbSNP:

rs376526037

ERCC6

0.700

CausalMutation

CLINVAR

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

18628313

2008

dbSNP:

rs376526037

ERCC6

0.700

CausalMutation

CLINVAR

Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.

10767341

2000

dbSNP:

rs376526037

ERCC6

0.700

CausalMutation

CLINVAR

Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

1372469

1992